Sickle Beta 0 Thalassemia

Preferred Label : Sickle Beta 0 Thalassemia;

NCIt synonyms : S Beta 0 Thalassemia; Hb S Beta 0 Thalassemia; Hemoglobin S Beta 0 Thalassemia;

NCIt related terms : Sickle Beta Zero Thalassemia;

NCIt definition : A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease.;

Alternative definition : NICHD: A form of sickle cell thalassemia characterized by the presence of hemoglobin S and the absence of hemoglobin A. Patients usually have a more severe clinical phenotype, identical to that seen in sickle cell disease.;

Details

Origin ID

C98835;

UMLS CUI

C3274463;

Currated CISMeF NLP mapping
- sickle beta 0 thalassemia [Disease (Nov.)]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- sickle beta 0 thalassemia [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Hemoglobin Alpha Homozygous Null Genotype [NCIt concept]
disease_has_molecular_abnormality
- HBB NP_000509.1:p.E7V [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- HBB Gene [NCIt concept]

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